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CFTR c.3656_3657delinsGG ;(p.Y1219W)
Variant ID: 7-117267763-AC-GG
NM_000492.3(
CFTR
):c.3656_3657delinsGG;(p.Y1219W)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A stable ATP binding to the nucleotide binding domain is important for reliable gating cycle in an ABC transporter CFTR.
The Journal Of Physiological Sciences : Jps
Shimizu, Hiroyasu H; Yu, Ying-Chun YC; Kono, Koichi K; Kubota, Takahiro T; Yasui, Masato M; Li, Min M; Hwang, Tzyh-Chang TC; Sohma, Yoshiro Y
Publication Date: 2010-09
Variant appearance in text: CFTR: Y1219W
PubMed Link:
20628841
Variant Present in the following documents:
Main text
View BVdb publication page
The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.
The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10
Variant appearance in text: CFTR: Y1219W
PubMed Link:
16966475
Variant Present in the following documents:
Main text
jgp1280413.pdf
View BVdb publication page